Gene: TSC2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
C 0.700 CausalMutation CLINVAR

dbSNP: rs137854329
rs137854329
TSC2
CT 0.700 CausalMutation CLINVAR

dbSNP: rs45460895
rs45460895
TSC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs45483392
rs45483392
TSC2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs45488500
rs45488500
TSC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs45517169
rs45517169
TSC2
T 0.700 CausalMutation CLINVAR

dbSNP: rs45517382
rs45517382
TSC2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR A case of solitary subependymal giant cell astrocytoma: two somatic hits of TSC2 in the tumor, without evidence of somatic mosaicism. 16237225

2005
dbSNP: rs752603642
rs752603642
TSC2
0.010 GeneticVariation BEFREE A heterozygous nonsense TSC1 mutation g.132902703C>T (c.2293C>T, p.Gln765Ter) was identified in a patient with TSC and KC. 29261847

2017
dbSNP: rs45514100
rs45514100
TSC2
0.010 GeneticVariation BEFREE A heterozygous nonsense TSC1 mutation g.132902703C>T (c.2293C>T, p.Gln765Ter) was identified in a patient with TSC and KC. 29261847

2017
dbSNP: rs45517234
rs45517234
TSC2
0.010 GeneticVariation BEFREE A heterozygous nonsense TSC1 mutation g.132902703C>T (c.2293C>T, p.Gln765Ter) was identified in a patient with TSC and KC. 29261847

2017
dbSNP: rs45516293
rs45516293
TSC2
C 0.700 CausalMutation CLINVAR A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. 11403047

2001
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR A reliable cell-based assay for testing unclassified TSC2 gene variants. 18854862

2009
dbSNP: rs45517258
rs45517258
TSC2
T 0.700 CausalMutation CLINVAR A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. 25432535

2015
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. 16114042

2005
dbSNP: rs45517308
rs45517308
TSC2
G 0.700 CausalMutation CLINVAR Assessment of Tuberous Sclerosis Complex Associated With Renal Lesions by Targeted Next-generation Sequencing in Mainland China. 28065512

2017
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
A 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs45517258
rs45517258
TSC2
T 0.700 CausalMutation CLINVAR Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. 22867869

2013
dbSNP: rs28934872
rs28934872
TSC2
0.010 GeneticVariation BEFREE Combined with her clinical presentation, the patient was diagnosed with TSC after molecular analysis revealed she had inherited the TSC2 c.1832G>A (p.R611Q) mutation from her mother. 31083211

2019
dbSNP: rs754504918
rs754504918
TSC2
0.010 GeneticVariation BEFREE Combined with her clinical presentation, the patient was diagnosed with TSC after molecular analysis revealed she had inherited the TSC2 c.1832G>A (p.R611Q) mutation from her mother. 31083211

2019
dbSNP: rs45517258
rs45517258
TSC2
T 0.700 CausalMutation CLINVAR Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. 9829910

1998
dbSNP: rs1060500931
rs1060500931
TSC2
0.010 GeneticVariation BEFREE Family 2 had two children with tuberous sclerosis (TSC2 C1327T) and two healthy children. 22884613

2012
dbSNP: rs1114167462
rs1114167462
TSC2
0.010 GeneticVariation BEFREE Family 2 had two children with tuberous sclerosis (TSC2 C1327T) and two healthy children. 22884613

2012
dbSNP: rs1430119276
rs1430119276
TSC2
0.010 GeneticVariation BEFREE Finally, phosphorylation defective TSC2 mutants (S932A and S939A single mutants and a S932A/S939A double mutant) failed to upregulate mTORC1 activity in the presence of translation inhibitors, suggesting that activation of mTORC1 by translation inhibitors is mediated by PKC-δ phosphorylation of TSC2 at S932/S939, which inactivates TSC. 30684133

2019
dbSNP: rs45517278
rs45517278
TSC2
0.010 GeneticVariation BEFREE Finally, phosphorylation defective TSC2 mutants (S932A and S939A single mutants and a S932A/S939A double mutant) failed to upregulate mTORC1 activity in the presence of translation inhibitors, suggesting that activation of mTORC1 by translation inhibitors is mediated by PKC-δ phosphorylation of TSC2 at S932/S939, which inactivates TSC. 30684133

2019